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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 18-32287725-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=32287725&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 32287725,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000269209.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM1",
"gene_hgnc_id": 26136,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "NM_001242409.2",
"protein_id": "NP_001229338.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 876,
"cds_start": 872,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 7434,
"mane_select": "ENST00000269209.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM1",
"gene_hgnc_id": 26136,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000269209.7",
"protein_id": "ENSP00000269209.6",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 876,
"cds_start": 872,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 7434,
"mane_select": "NM_001242409.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM1",
"gene_hgnc_id": 26136,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "NM_022751.3",
"protein_id": "NP_073588.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 875,
"cds_start": 872,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 7431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM1",
"gene_hgnc_id": 26136,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000399218.8",
"protein_id": "ENSP00000382165.3",
"transcript_support_level": 2,
"aa_start": 291,
"aa_end": null,
"aa_length": 875,
"cds_start": 872,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 7033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM1",
"gene_hgnc_id": 26136,
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Lys169Arg",
"transcript": "XM_024451234.2",
"protein_id": "XP_024307002.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 754,
"cds_start": 506,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 6936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM1",
"gene_hgnc_id": 26136,
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Lys169Arg",
"transcript": "XM_047437739.1",
"protein_id": "XP_047293695.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 754,
"cds_start": 506,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 6939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM1",
"gene_hgnc_id": 26136,
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Lys169Arg",
"transcript": "XM_047437740.1",
"protein_id": "XP_047293696.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 754,
"cds_start": 506,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 32888,
"cdna_end": null,
"cdna_length": 38996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM1",
"gene_hgnc_id": 26136,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "XM_017025919.2",
"protein_id": "XP_016881408.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 680,
"cds_start": 872,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264982",
"gene_hgnc_id": null,
"hgvs_c": "n.289T>C",
"hgvs_p": null,
"transcript": "ENST00000579580.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM1",
"gene_hgnc_id": 26136,
"hgvs_c": "n.*151A>G",
"hgvs_p": null,
"transcript": "ENST00000578619.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GAREM1",
"gene_hgnc_id": 26136,
"dbsnp": "rs3744921",
"frequency_reference_population": 0.010077273,
"hom_count_reference_population": 350,
"allele_count_reference_population": 16265,
"gnomad_exomes_af": 0.0100522,
"gnomad_genomes_af": 0.0103186,
"gnomad_exomes_ac": 14695,
"gnomad_genomes_ac": 1570,
"gnomad_exomes_homalt": 323,
"gnomad_genomes_homalt": 27,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0022611618041992188,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.0762,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.753,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000269209.7",
"gene_symbol": "GAREM1",
"hgnc_id": 26136,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000579580.1",
"gene_symbol": "ENSG00000264982",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.289T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}